Genetic, clinical and treatment heterogeneity of three patients with congenital central hypoventilation syndrome

Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by sleep-related hypoventilation predominantly during NREM sleep. It´s caused by mutations in PHOX2B, in most cases due to heterozygous expansions of a 20-polyalanine tract on exon 3 (PARMs mutations). Usually the first symptoms appear in the neonatal period, but few cases have a late-onset (LO-CHS).

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